Canonical Allele Identifier: CA408524843

Gene: MYLK2

Linked Data

• MyVariant Identifiers: chr20:g.30407935C>T (hg19) ; chr20:g.31820132C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.31820132C>T , CM000682.2:g.31820132C>T	GRCh38
NC_000020.10:g.30407935C>T , CM000682.1:g.30407935C>T	GRCh37
NC_000020.9:g.29871596C>T	NCBI36
NG_012847.1:g.5758C>T , LRG_392:g.5758C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375985.5:c.59C>T MANE Select	ENSP00000365152.4:p.Ala20Val
ENST00000375985.4:c.59C>T	ENSP00000365152.4:p.Ala20Val
ENST00000375994.6:c.59C>T	ENSP00000365162.2:p.Ala20Val
NM_033118.3:c.59C>T , LRG_392t1:c.59C>T	NP_149109.1:p.Ala20Val
XR_244155.1:n.224C>T
NM_033118.4:c.59C>T MANE Select	NP_149109.1:p.Ala20Val